SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 71 0.010 None 1.000 1 2018 2018
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 48 22 0.100 None 0 1
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction
phenotype Finding 16 0.100 None 0
CUI: C0042571
Disease: Vertigo
Vertigo
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.120 None 1.000 2 2007 2014
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.030 None 1.000 3 2000 2004
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis
disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.100 None 0
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis
disease Endocrine System Diseases Disease or Syndrome 37 7 0.010 None 1.000 1 2005 2005
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
disease Neoplasms; Endocrine System Diseases Neoplastic Process 150 17 0.010 None 1.000 1 2013 2013
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.050 None 1.000 5 2001 2013
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 6 0.410 None 1.000 1 1 2014 2014
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 24 5 0.010 None 1.000 1 2014 2014
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
group Endocrine System Diseases Disease or Syndrome 230 26 0.040 None 1.000 4 2003 2013
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.160 None 1.000 6 2000 2013
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 11 3 0.400 None 1.000 1 2014 2014
CUI: C0038506
Disease: Stuttering
Stuttering
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 34 8 0.010 None 1.000 1 2019 2019
CUI: C0038478
Disease: Struma Ovarii
Struma Ovarii
disease Neoplasms Neoplastic Process 10 1 0.010 None 1.000 1 2005 2005
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.100 None 0
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.010 None 1.000 1 2019 2019
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
Severe sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 5 0.010 None 1.000 1 2010 2010
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.100 None 0
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 0.300 None 1.000 3 2004 2006
Sensorineural hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.110 None 1.000 1 2 2015 2015
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.700 strong 1.000 35 3 1996 2019